Canonical Allele Identifier: CA2175492384
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445396G= , CM000677.2:g.48445396G= GRCh38
NC_000015.9:g.48737593G= , CM000677.1:g.48737593G= GRCh37
NC_000015.8:g.46524885G= NCBI36
NG_008805.2:g.205393C= , LRG_778:g.205393C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5897C= ENSP00000453958.2:p.Pro1966=
ENST00000674301.2:c.5897C= ENSP00000501333.2:p.Pro1966=
ENST00000684448.1:n.4571C=
ENST00000316623.10:c.5897C= MANE Select ENSP00000325527.5:p.Pro1966=
ENST00000674301.1:c.896C= ENSP00000501333.1:p.Pro299=
ENST00000316623.9:c.5897C= ENSP00000325527.5:p.Pro1966=
ENST00000537463.6:c.*1660C= ENSP00000440294.2:n.*1660C=
ENST00000559133.5:c.1204C=
ENST00000560820.1:n.17C=
NM_000138.4:c.5897C= , LRG_778t1:c.5897C= NP_000129.3:p.Pro1966=
NM_000138.5:c.5897C= MANE Select NP_000129.3:p.Pro1966=
Search 100 bp 5'
Search 100 bp 3'